SLC47A1
solute carrier family 47 member 1
Summary
This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
Known Variants43 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2252281 | 17:19,437,187 | T/C | regulatory region variant | — |
| rs555657341 | 17:19,437,280 | G/C | missense variant | — |
| rs772367782 | 17:19,437,323 | G/T | — | uncertain significance |
| rs771347017 | 17:19,437,349 | G/A | — | uncertain significance |
| rs2453583 | 17:19,442,036 | A/T | regulatory region variant | — |
| rs34012597 | 17:19,449,780 | C/T | — | benign |
| rs750584659 | 17:19,449,781 | G/A | — | uncertain significance |
| rs372838369 | 17:19,451,331 | G/A | — | uncertain significance |
| rs748037764 | 17:19,451,350 | C/T | — | uncertain significance |
| rs1482665467 | 17:19,451,361 | C/T | — | uncertain significance |
| rs143542564 | 17:19,451,443 | C/T | — | uncertain significance |
| rs767295387 | 17:19,458,538 | C/T | — | uncertain significance |
| rs1916568754 | 17:19,458,566 | C/A | — | uncertain significance |
| rs1276389138 | 17:19,458,602 | T/C | — | likely benign |
| rs1916580843 | 17:19,458,926 | T/C | — | uncertain significance |
| rs116464617 | 17:19,459,134 | C/T | — | benign |
| rs145720500 | 17:19,459,175 | T/C | — | uncertain significance |
| rs375100642 | 17:19,459,196 | C/T | — | uncertain significance |
| rs141572615 | 17:19,459,205 | T/A | missense variant | — |
| rs201666623 | 17:19,459,308 | G/T | — | uncertain significance |
| rs749654482 | 17:19,459,326 | A/T | — | uncertain significance |
| rs762246789 | 17:19,459,331 | G/A | — | uncertain significance |
| rs764856474 | 17:19,459,343 | A/G | — | likely benign |
| rs745924374 | 17:19,459,373 | A/G | — | uncertain significance |
| rs546115820 | 17:19,461,755 | C/T | — | — |
| rs2289669 | 17:19,463,343 | G/A | downstream gene variant | — |
| rs2544277313 | 17:19,463,513 | T/G | — | uncertain significance |
| rs746772772 | 17:19,463,534 | C/T | — | uncertain significance |
| rs141992176 | 17:19,463,568 | A/T | — | uncertain significance |
| rs375236013 | 17:19,463,576 | C/T | — | uncertain significance |
| rs35790011 | 17:19,463,591 | G/A | missense variant | — |
| rs766863228 | 17:19,463,781 | G/A | — | uncertain significance |
| rs9674780 | 17:19,466,691 | C/G | — | — |
| rs780316541 | 17:19,470,487 | G/T | — | uncertain significance |
| rs1209071431 | 17:19,470,512 | T/G | — | uncertain significance |
| rs138902371 | 17:19,476,150 | C/T | — | uncertain significance |
| rs35395280 | 17:19,480,643 | G/T | — | benign |
| rs545938856 | 17:19,480,670 | C/T | — | likely benign |
| rs773686189 | 17:19,480,786 | C/T | — | uncertain significance |
| rs144621154 | 17:19,480,787 | G/A | — | uncertain significance |
| rs1167437513 | 17:19,480,793 | G/C | — | uncertain significance |
| rs201778540 | 17:19,480,808 | G/A | — | uncertain significance |
| rs2544303946 | 17:19,480,811 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.